Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANGPT2_chr8_6494632_6568245	6505293	ACATATAT others(146): Show ACATATATATGTATATAACATATATATGTTATATACATATAGAAAGAATA TATATATTCTTTCTATATGTATATAGAATATATATATTCTTTCTATATGT ATATAGAATATATATATTCTTTATATACATAAAGAATATATATATTCTTT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02965.hp2 others(3): Show HG02622.hp2 HG02630.hp2 HG02965.hp2 HG03139.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0054 a0001c0002t0070 a0001c0002t0071 others(3): Show a0001c0001t0054 a0001c0002t0070 a0001c0002t0071 a0001c0002t0076 a0001c0009t0057 a0001c0009t0073	a0001c0001t0054g0178 a0001c0002t0070g0296 a0001c0002t0071g0284 others(3): Show a0001c0001t0054g0178 a0001c0002t0070g0296 a0001c0002t0071g0284 a0001c0002t0076g0332 a0001c0009t0057g0280 a0001c0009t0073g0328	6	336	0.0179	-153	c.132 others(19): Show c.1328-2185_1328-2033del	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANO9_chr11_412938_447011	436871	CAGGGGGT others(146): Show CAGGGGGTGAGCAGGGGGTAAGCAGGAGGTGAGCAGGGGGTGAGCGGGGG GTGAGCAGGAGGTGAGCAGGGGGTGAGCAGGGGGTGAGCAGGGGGTGAGC AGGGGGTGAGCAGTGGGTGAGCGGGAGGTGAGCGGGGAGTGAGCTGGAGA TGAG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	286	0.0035	-153	c.7-2 others(13): Show c.7-2926_7-2774del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144625345	CCACTGCA others(146): Show CCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCA CCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACTCACTGCACACTGCGGCATCCCCTGTCCCCGCGGCCCCGTTCACGGAG CACT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	246	0.0041	-153	c.-81 others(19): Show c.-81-19803_-81-19651del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144626026	GCCCCTGT others(146): Show GCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(72): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18962.hp1 NA18980.hp1 NA18984.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19087.hp1 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0004c0009 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0009 a0001c0005t0001 a0001c0005t0010 a0001c0006t0001 a0004c0009t0001 a0005c0013t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0057 others(72): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0157 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0243 a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0166 a0001c0001t0013g0192 a0001c0001t0015g0180 a0001c0001t0020g0079 a0001c0002t0001g0007 a0001c0002t0001g0159 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0009g0004 a0001c0005t0001g0006 a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0010g0001 a0001c0006t0001g0171 a0001c0006t0001g0181 a0001c0006t0001g0193 a0004c0009t0001g0008 a0005c0013t0002g0195	75	246	0.3049	-153	c.-81 others(19): Show c.-81-20484_-81-20332del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888963	GGTCTGCG others(146): Show GGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAG TGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGAGGAG ACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAG GGGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0176 a0001c0016t0004g0176	1	363	0.0028	-153	c.118 others(19): Show c.1182+3257_1182+3409del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111254431	GCTCAGAA others(146): Show GCTCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACATGAAGGCCG GCCTCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACATGAAGGCC GGGCTCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCACTAACGTGAAGGC TGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0117 a0001c0005t0020g0117	1	274	0.0037	-153	c.950 others(19): Show c.950+10177_950+10329del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111254586	TCAGAAGA others(146): Show TCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGGG CCCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCGG GCCCAGAAGAGGATTCGGGCTAAGGCGCTGAGTCGCTAACGTGAAGGCCG GGCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02293.hp2 HG01175.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0126 a0001c0001t0005g0063 a0001c0001t0005g0126	2	274	0.0073	-153	c.950 others(19): Show c.950+10751_950+10903del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82972357	GGGGATAG others(146): Show GGGGATAGAAGGACCCAGTACTGACCACACCACACCACAGGGGCTAGAAG GACCTGGTGCCGACCACAGCACACCACAGGGGCTAGAAGGACCTGGTGCT GACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACA CCAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0011 a0001c0011t0011	a0001c0011t0011g0138 a0001c0011t0011g0138	1	266	0.0038	-153	c.460 others(17): Show c.460-6764_460-6612del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052606	TGAGGTCC others(146): Show TGAGGTCCCCCAGAAGGAGGGGTGCCCAGGAGTGAGACCCTGACCCCACC AGGAGGTCCCCCAGGAGGAGGGGTGCCCGGGAGTGAGGCCCTGACCCCAC CGCGAGGTCCCCCAGGAGGAGGGGTGCCCAGGAGTGAGGCCCTGACCCCA CCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18943.hp2 NA18964.hp2 others(3): Show HG02027.hp2 NA18943.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0002 a0001c0002t0019 a0002c0009t0013 others(1): Show a0001c0002t0002 a0001c0002t0019 a0002c0009t0013 a0002c0009t0024	a0001c0002t0002g0086 a0001c0002t0019g0115 a0002c0009t0013g0087 others(3): Show a0001c0002t0002g0086 a0001c0002t0019g0115 a0002c0009t0013g0087 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118	6	266	0.0226	-153	c.-10 others(10): Show c.-1008_-856del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		837		chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83052735	AGGAGTGA others(146): Show AGGAGTGAGGCCCTGACCCCACCAGGAGGTCCCCCAGGAGGAGGGGTGCC CGGGAGTGAGGCCCTGACCCCACCGCGAGGTCCCCCAGGAGGAGGGGTGC CCAGGAGTGAGACCCTGACCCCACCAGGAGGTCCCCCAGGAGGAGGGGTG CCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(46): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0006 a0001c0013 others(5): Show a0001c0004 a0001c0006 a0001c0013 a0001c0014 a0001c0016 a0002c0015 a0002c0022 a0003c0023	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(19): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0023 a0001c0006t0033 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002 a0001c0014t0018 a0001c0016t0001 a0002c0015t0003 a0002c0022t0003 a0003c0023t0011	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(44): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0022 a0001c0006t0002g0007 a0001c0006t0002g0024 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0006g0047 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0006t0011g0018 a0001c0006t0011g0027 a0001c0006t0018g0015 a0001c0006t0023g0030 a0001c0006t0033g0044 a0001c0013t0012g0001 a0001c0013t0012g0013 a0001c0013t0012g0014 a0001c0014t0001g0012 a0001c0014t0002g0011 a0001c0014t0018g0049 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0022t0003g0029 a0003c0023t0011g0019	49	266	0.1842	-153	c.-11 others(10): Show c.-1137_-985del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		966		chr17	TogoVar
BOK_chr2_241553745_241579131	241561537	CGGCCCAG others(146): Show CGGCCCAGCCAGCCCAGGTGGGAGCGTGGCAGTGCGGGTGGCCCAGGACA GGGGCCCAGCCAGCCCAGGTGGGAGCGTGGCAGTGCGGGTGGCCCAGGAC AGCGGCCCAGCCAGCCCAGGTGGGAGCGTGGCAGTGCGGGTGGCCCAGGA CAGG	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0268 a0001c0001t0007g0268	1	434	0.0023	-153	c.221 others(15): Show c.221-760_221-608del	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570511	CGGATGGG others(146): Show CGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCC TGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAG TGGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	434	0.0023	-153	c.513 others(15): Show c.513+529_513+681del	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC38_chr12_95862048_95947614	95908528	AGAGGGAG others(146): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGG AGAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0261 a0003c0006t0002g0261	1	350	0.0029	-153	c.305 others(17): Show c.305-2230_305-2078del	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCKAR_chr4_26476396_26495484	26492428	CCTTCCTT others(146): Show CCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTCTCT CTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTTTCTT TCTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	454	0.0022	-153	c.-23 others(11): Show c.-2314_-2162del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		1945		chr4	TogoVar
CDC34_chr19_526760_547087	540382	GCCCCCCG others(146): Show GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAG GCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCC AGGC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	328	0.0031	-153	c.498 others(15): Show c.498-951_498-799del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61565252	TGGTGATG others(146): Show TGGTGATGGTGGTGGTGGTCCTCTTGGTGATGGGGTGATGGTGGTGGCGG TGCTCTTGGTGGTGGCGGTGCTCTTGGTGATGGTGGTAGTGGTCCTCTTG GTGATGGGGTGATGGTGGTGGTGGTCCTCTTGGTGATGGGGTGATGGTGG TGGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03195.hp2 HG03225.hp1 others(1): Show HG01346.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0052 a0002c0002t0012 others(1): Show a0001c0001t0001 a0001c0003t0052 a0002c0002t0012 a0002c0002t0041	a0001c0001t0001g0012 a0001c0003t0052g0064 a0002c0002t0012g0104 others(1): Show a0001c0001t0001g0012 a0001c0003t0052g0064 a0002c0002t0012g0104 a0002c0002t0041g0087	4	106	0.0377	-153	c.170 others(21): Show c.170-178306_170-178154del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61744357	AGGGAGAG others(146): Show AGGGAGAGGAAGAGAGGGAGAGAGAGAAGGAGGGAGAGAGATGGAAAGAG GTGGAGGGAGAGAGAGAAGGAAAGGGAGGGAGAGGAAGAGAGGGAGAGAG AGAAGGAGGGAGAGAGATGGAGAGAGGTGGAGGGAGAGAGAGAAGGAAAG GGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02451.hp2 others(3): Show HG01243.hp1 HG01255.hp1 HG02451.hp2 HG02922.hp2 HG03139.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0017 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0017 a0001c0003t0054 a0001c0006t0029 a0002c0004t0003	a0001c0001t0001g0032 a0001c0003t0001g0020 a0001c0003t0017g0067 others(3): Show a0001c0001t0001g0032 a0001c0003t0001g0020 a0001c0003t0017g0067 a0001c0003t0054g0086 a0001c0006t0029g0035 a0002c0004t0003g0011	6	106	0.0566	-153	c.396 others(15): Show c.396+613_396+765del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61744402	AAGAGGTG others(146): Show AAGAGGTGGAGGGAGAGAGAGAAGGAAAGGGAGGGAGAGGAAGAGAGGGA GAGAGAGAAGGAGGGAGAGAGATGGAGAGAGGTGGAGGGAGAGAGAGAAG GAAAGGGAGGGGAGAGGAAGAGAGGGAGAGAGAGAAGGAGGGAGAGAGAT GGAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03927.hp1 HG01346.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0012 a0002c0005t0002 a0002c0002t0012 a0002c0005t0002	a0002c0002t0012g0104 a0002c0005t0002g0061 a0002c0002t0012g0104 a0002c0005t0002g0061	2	106	0.0189	-153	c.396 others(15): Show c.396+652_396+804del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFD_chr19_854664_868641	866752	CGCGGGCC others(146): Show CGCGGGCCTGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCG CCGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCC ACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACC CACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03654.hp2 HG00323.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0004 a0001c0001t0013g0004 a0001c0001t0003g0004 a0001c0001t0013g0004	2	287	0.0070	-153	c.35 others(11): Show c.3515_*3667del	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3112		chr19	TogoVar
CHMP3_chr2_86498430_86568443	86536375	ATGTCCTT others(146): Show ATGTCCTTTCATTTCAACCTGAAGGACTCCCTTTATTACCTCTTGCAAGT CAGGTCTAGCTGTAATAAACTCCCATGGCTTTTGTTTATCTGACAGTTTT GCTAGACATAAAATTTTGGTTGATAGGCCTTTTCTTTCAGTATTGAATCC ACTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0167 a0001c0001t0004g0168	2	336	0.0060	-153	c.106 others(17): Show c.106+5724_106+5876del	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	2/5			chr2	TogoVar
CHRNA7_chr15_32025515_32178018	32065764	AAACACTG others(146): Show AAACACTGGGGGCAGAGCTGTCAGCTGCCTGGCTGTGTGTGGAAGGTGTG TCACAGCACACAGACATAGCCCACTGCAAACACTGGGGACAGAGCTGTCA GTTGCCTGGCTGTGTGTGGAAGGTGTGCCCCAGCACACAACACAGCCCAC TGCG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	307	0.0033	-153	c.195 others(19): Show c.195+34777_195+34929del	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CLUL1_chr18_591988_655182	596839	GGCGTCAC others(146): Show GGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACC CGGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCAC CCGGCGTCACCTGCAGGCCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCA CCCT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03239.hp2 NA19043.hp2 HG03239.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0044 a0001c0001t0003g0313 a0001c0001t0002g0044 a0001c0001t0003g0313	2	414	0.0048	-153	c.-42 others(9): Show c.-425_-273del	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	1/10	21009		chr18	TogoVar
COL18A1_chr21_45400165_45518720	45507179	GCGGGTGC others(146): Show GCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGT GTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGA CTGGGAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGCA GGGC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18953.hp2 NA19012.hp1 HG02735.hp1 NA18953.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0055 a0001c0002 a0001c0005 a0001c0055	a0001c0002t0003 a0001c0005t0003 a0001c0055t0003 a0001c0002t0003 a0001c0005t0003 a0001c0055t0003	a0001c0002t0003g0143 a0001c0005t0003g0211 a0001c0055t0003g0152 a0001c0002t0003g0143 a0001c0005t0003g0211 a0001c0055t0003g0152	3	292	0.0103	-153	c.321 others(17): Show c.3217-355_3217-203del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110253311	TTACATAT others(146): Show TTACATATACATATAATTATATGTATTACATATACATATAATTATATGTA TTACATATACATATAATTATATGTATTACATATACATATAATTATATGTA TTACATATACATATAATTATATGTATTACATATACATATAATTATATGTA TTAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp2 others(26): Show HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01256.hp1 HG01361.hp2 HG02071.hp1 HG02135.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp1 HG03209.hp1 HG03654.hp2 HG03669.hp1 HG06807.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18984.hp1 NA18992.hp2 NA19056.hp1 NA19058.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0003 a0001c0007 others(21): Show a0001c0001 a0001c0003 a0001c0007 a0001c0020 a0001c0052 a0001c0066 a0001c0072 a0002c0002 a0002c0004 a0002c0011 a0002c0018 a0002c0024 a0002c0092 a0002c0096 a0003c0008 a0003c0027 a0003c0041 a0003c0099 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0005c0034 a0009c0113	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(23): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0020t0005 a0001c0052t0001 a0001c0066t0001 a0001c0072t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0018t0001 a0002c0024t0002 a0002c0092t0002 a0002c0096t0001 a0003c0008t0003 a0003c0027t0001 a0003c0041t0002 a0003c0099t0003 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0022t0001 a0005c0034t0001 a0009c0113t0003	a0001c0001t0001g0047 a0001c0003t0001g0154 a0001c0007t0001g0065 others(26): Show a0001c0001t0001g0047 a0001c0003t0001g0154 a0001c0007t0001g0065 a0001c0020t0005g0123 a0001c0052t0001g0149 a0001c0066t0001g0151 a0001c0072t0001g0141 a0002c0002t0001g0220 a0002c0002t0002g0297 a0002c0002t0003g0195 a0002c0004t0001g0260 a0002c0011t0001g0213 a0002c0018t0001g0176 a0002c0024t0002g0281 a0002c0092t0002g0341 a0002c0096t0001g0259 a0003c0008t0003g0233 a0003c0027t0001g0261 a0003c0041t0002g0300 a0003c0099t0003g0232 a0004c0005t0001g0031 a0004c0005t0001g0056 a0004c0017t0001g0004 a0004c0021t0001g0053 a0004c0021t0001g0063 a0004c0022t0001g0048 a0004c0022t0001g0148 a0005c0034t0001g0165 a0009c0113t0003g0263	29	344	0.0843	-153	c.85- others(17): Show c.85-10730_85-10578del	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPN2_chr3_194334768_194356328	194347847	CCCACTGC others(146): Show CCCACTGCCCAGTTCATCCCACCCCATCCGCTGCCCAGTTCAGCCCACCC CATCCTCTGCCCAGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCAC CACCCCCGCCCAGTTCAGCCCACCCCATCCTCTGCCTAGTTCAGCCCACC CCAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0093 a0002c0002t0003g0093	1	440	0.0023	-153	c.-4+ others(15): Show c.-4+3242_-4+3394del	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240984598	CCACACAC others(146): Show CCACACACACCCAGGCACTCACTCCACACACACACCCAGGCACTCACTCC ACACACACACACCCAGGCACTCACTCCACCACACACACACACCCAGGCAC TCACTCCACACACACACCCAGGCACTCAATCCACACACACACCCAGGCAC TCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0007 a0016c0073t0007	a0016c0073t0007g0166 a0016c0073t0007g0166	1	350	0.0029	-153	c.455 others(19): Show c.4551+1579_4551+1731del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DEFB130A_chr8_12305962_12323316	12320731	ATAATTGA others(146): Show ATAATTGATATTCCTTTAGATATATACTAAGTAATGGGATTGCTGTGTCA AGTAGTGCTTTTATTTTAAGTGTTTTGAGAAATCTTCAGACTACTTTCCA CTATAGCTGAACTAATTTATATTTCCACTAGCAGTGTATAAGCATTCCCT TTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG04204.hp2 HG03041.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0034 a0001c0001t0000g0038 a0001c0001t0000g0034 a0001c0001t0000g0038	2	338	0.0059	-153	c.-25 others(11): Show c.-2568_-2416del	DEFB130A	ENSG00000232948.1	transcript	ENST00000400079.1	protein_coding		2416		chr8	TogoVar
DGKD_chr2_233349494_233477098	233463375	ACATCTCC others(146): Show ACATCTCCTCACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCA CGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATGTCCTCACTGC ACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATGTCCTCACTC CACG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0001 a0001c0004t0022g0001	2	336	0.0060	-153	c.318 others(17): Show c.3186+657_3187-620del	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPEP1_chr16_89608642_89643433	89619123	GCCCCCCC others(146): Show GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCTCCC TGCTCCCTCCCTGCAGCCCCCTGCCCCCCCACTCCCCTCCCTGCAGCTCC CTGC	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0162 a0002c0002t0003g0162	1	250	0.0040	-153	c.-10 others(19): Show c.-107+5411_-107+5563del	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHMT1_chr9_137614005_137841127	137781182	GGACGTGT others(146): Show GGACGTGTGGTGACGACGCTGAGACGTGTGGTGACGACGCTGGGACGTGT GGTGACGACGCTGGGACGTGTGGTGACGACGCTGGGACGTGTGGTGATGA CGCTGAGATGTGTGGTGATGACGGCATCACTGAGATGTGTGGTGATGACG CTGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0150 a0001c0008t0001g0150	1	170	0.0059	-153	c.227 others(18): Show c.2276-1096_2276-944del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERBIN_chr5_65921575_66087546	66018447	ATATATAT others(146): Show ATATATATTATATTATATAATATATATTATATATTATATATTATATTATA TAATATATATTATATATTATATAATATATATTATATTATATAATATATAT TATATATTATATAATATATATTATATTATATAATATATATTATATAATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02109.hp1 others(19): Show HG01167.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0005 a0004c0014 others(1): Show a0001c0007 a0004c0005 a0004c0014 a0004c0017	a0001c0007t0010 a0004c0005t0004 a0004c0005t0025 others(2): Show a0001c0007t0010 a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004	a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 others(19): Show a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0165 a0001c0007t0010g0275 a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011	22	306	0.0719	-153	c.534 others(17): Show c.534-2867_534-2715del	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC3L4_chr14_103089725_103115559	103109536	TCTCCCTC others(146): Show TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCT GCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCC	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0275 a0009c0019t0002g0275	1	404	0.0025	-153	c.197 others(17): Show c.1977-483_1977-331del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133857172	ATATATAT others(146): Show ATATATATATATATATATATATATATATATTTTACCTCTACTTAACCTCC CTGGATGATTGTCTTAGTGTCACATATATATATATATATATATATATATA TACACGTATATATATATATATATATACACGTATATATATATATATATATA CACG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0064 a0001c0004t0001g0064	1	102	0.0098	-153	c.173 others(21): Show c.1735-38397_1735-38245del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
F7_chr13_113100791_113125685	113107310	CGTGGGTG others(146): Show CGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGA GTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGG GGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGG GAGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG02818.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0234 a0001c0001t0017g0233 a0001c0001t0004g0234 a0001c0001t0017g0233	2	400	0.0050	-153	c.64+ others(15): Show c.64+1420_64+1572del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM174B_chr15_92612448_92660775	92631019	ATATATTA others(146): Show ATATATTACGTATTACATATTACATATTATATATTATATATTACGTATTA CATATTACATATTATATATTATATATTACGTATTACATATTACATATTAT ATTATATATTACGTATTACATATTACATATTATATTATATATTATATAAT AATT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18982.hp1 HG00673.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0301 a0001c0001t0001g0308	2	394	0.0051	-153	c.345 others(15): Show c.345-827_345-675del	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM9B_chrX_9019232_9039127	9021286	ATATATAA others(146): Show ATATATAATATATAATATATTATATTATATATATTATATATAATATATTA TATTATATATATTATATATAATATATTATATTATATATATTATATATAAT ATATTATATATATTATATATATTATATATAATATATTATATATATTATAT ATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	258	0.0039	-153	c.39 others(11): Show c.3970_*4122del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2945		chrX	TogoVar
FEZ1_chr11_125437881_125501265	125493355	AAGAGAGA others(146): Show AAGAGAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAA AGAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	356	0.0028	-153	c.-46 others(17): Show c.-46+2613_-46+2765del	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FGF2_chr4_122821831_122903236	122900205	CAAATCCT others(146): Show CAAATCCTTTTCCGAAGCTTTTGTAAACCTTCCAGCCTTCCAAGAAGGTT TGCATCTTTCTACAATTTTTGCCACCACCCTGACCAATCTCCTACACTAT GCTAAATATTTGTATAAGAATTATGCACATTTAAACTTCCTTTTTTTCCT TCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02145.hp2 others(19): Show HG01361.hp1 HG01891.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 others(3): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0034 a0001c0001t0045 a0001c0001t0046	a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0151 others(18): Show a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0162 a0001c0001t0007g0168 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0011g0017 a0001c0001t0011g0184 a0001c0001t0011g0187 a0001c0001t0011g0190 a0001c0001t0011g0192 a0001c0001t0011g0240 a0001c0001t0020g0009 a0001c0001t0020g0239 a0001c0001t0034g0217 a0001c0001t0045g0186 a0001c0001t0046g0185	22	256	0.0859	-153	c.78 others(11): Show c.7810_*7962del	FGF2	ENSG00000138685.18	transcript	ENST00000644866.2	protein_coding		1970		chr4	TogoVar
FGF2_chr4_122821831_122903236	122900300	ACTATGCT others(146): Show ACTATGCTAAATATTTGTATAAGAATTATGCACATTTAAACTTCCTTTTT TTCCTTCGGAAATCCTTTTCCGAAGCTTTTGTAAACCTTCCAGCCTTCCA AGAAGGTTTGCATCTTTCTACAATTTTTCCCACCACCCTGACCAATCTCC TATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA18522.hp1 NA20129.hp1 others(1): Show HG03195.hp1 NA18522.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0127 a0001c0001t0014g0143 a0001c0001t0014g0157 others(1): Show a0001c0001t0014g0127 a0001c0001t0014g0143 a0001c0001t0014g0157 a0001c0001t0014g0182	4	256	0.0156	-153	c.79 others(11): Show c.7905_*8057del	FGF2	ENSG00000138685.18	transcript	ENST00000644866.2	protein_coding		2065		chr4	TogoVar
FOXN1_chr17_28501348_28543900	28517783	TACCTCCA others(146): Show TACCTCCACAGGGTACACACCTCCACAGGATACACACCTCCACAGGGTAC ACACCTCCACAGGATACACACCTCCACAGGATCCATACCTCCACAGGGTA CACACCTCCACAGGATCCATACCTCCACAGGGTACACACCTCCACAGGGT ACAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01891.hp2 others(7): Show HG01109.hp2 HG01346.hp1 HG01891.hp2 HG02258.hp2 HG02723.hp1 HG02886.hp1 HG02976.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0239 a0002c0002t0004g0241 a0002c0002t0004g0242 others(6): Show a0002c0002t0004g0239 a0002c0002t0004g0241 a0002c0002t0004g0242 a0002c0002t0004g0243 a0002c0002t0005g0039 a0002c0002t0005g0235 a0002c0002t0005g0236 a0002c0002t0005g0237 a0002c0002t0005g0238	10	356	0.0281	-153	c.-14 others(17): Show c.-14-6165_-14-6013del	FOXN1	ENSG00000109101.8	transcript	ENST00000579795.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89360739	GCACCACC others(146): Show GCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCT CCAC	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	230	0.0044	-153	c.544 others(18): Show c.544-10084_544-9932del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362300	CCACCACC others(146): Show CCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACC ACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCA CCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	230	0.0044	-153	c.544 others(19): Show c.544-11645_544-11493del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805418	GCCCAGGG others(146): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	314	0.0032	-153	c.12 others(11): Show c.1253_*1405del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1132		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807264	CCCCTCAG others(146): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTT CCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	314	0.0032	-153	c.30 others(11): Show c.3099_*3251del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2978		chr2	TogoVar
GREM2_chr1_240484573_240617155	240536589	CGGGGGCT others(146): Show CGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGCA GCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGGC AGCGGGGGCTGTAGATCTGGAAGCCATCTGTAGAGTTTAAGACAAAATGG CAGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG00280.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0314 a0001c0001t0004g0159 a0001c0001t0003g0314 a0001c0001t0004g0159	2	376	0.0053	-153	c.-1- others(17): Show c.-1-43266_-1-43114del	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GTPBP6_chrX_299759_323796	321914	AAAGAAAA others(146): Show AAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGC ATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAA AAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0028	1	155	0.0065	-153	c.-32 others(11): Show c.-3280_-3128del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3119		chrX	TogoVar
GZMM_chr19_539053_554922	540382	GCCCCCCG others(146): Show GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAG GCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCC AGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	398	0.0025	-153	c.-36 others(11): Show c.-3689_-3537del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3670		chr19	TogoVar
HINT3_chr6_125951770_125985244	125962161	CACATATA others(146): Show CACATATATATATATATATATATATACACATATATATATATATATATATA CACATATATATATATATATATATACACATATATATATATACACACATATA TATATATATACATACATATATATATACACATATATATATATATATATCAC ACAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG02257.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0192 a0001c0004t0001g0193 a0001c0001t0001g0192 a0001c0004t0001g0193	2	268	0.0075	-153	c.202 others(17): Show c.202-4724_202-4572del	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HRH3_chr20_62209960_62225278	62213366	GTGGGGGA others(146): Show GTGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGT GGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGG AGAGCAGGGATGGGGGGTAAGGAGAGCGGGGATGGGGGGTAAGGAGAGCG GGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG03453.hp2 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	2	368	0.0054	-153	c.24 others(11): Show c.2487_*2639del	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1593		chr20	TogoVar
IL3RA_chrX_1331785_1387689	1366996	CGCGGGGT others(146): Show CGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCG GGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGA GCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGG GTGA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	115	0.0087	-153	c.874 others(17): Show c.874+1753_874+1905del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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